|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. (Human Disease Ontology, DOID_0050557)|
|Downloads & Tools|
4 genes associated with the congenital muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.